Symptoms of Familial Dysautonomia

A newborn with FD is typically “floppy,” “skinny,” and may have difficulty sucking. A newborn may experience frequent aspiration pneumonia (pneumonia causes by misdirecting liquid into the lungs) and may require an “NG” tube (a tube threaded down the baby’s nostril into the stomach) for nutrition. Eventually, the baby’s formula may need substantial thickening in order for the baby to swallow safely.

The toddler with FD has difficulty gaining weight and growing . Toddlers with FD tend to wobble and stumble, falling frequently. Their eyes are often dry which may lead to numerous corneal abrasions. They don’t produce overflow tears. Many drool and they may need to wear a terrycloth sweatband to wipe their chins dry. Most toddlers receive physical, occupational and speech therapy for developmental delays. The toddler may faint if laughing or crying or has been suddenly startled. Many parents find themselves dialing for emergency care only to watch their child regain consciousness and then go about playing as if nothing occurred.

Children and adults with FD have difficulty regulating their blood pressure so they will often feel dizzy and may simply collapse when rising from bed or sitting in a chair. Due to the decrease in pain sensitivity, those with FD are unaware that they are hurt so, for example, cuts, bruises, insect bites, broken bones, cracked teeth, and other forms of physical distress often go unnoticed.

Most alarming is the state of “autonomic crisis,” usually triggered by illness, intense stress or certain chemicals found in food or medication. During the autonomic crisis, FD sufferers will experience skyrocketing blood pressure and heart rate and they will endure uncontrollable and violent retching.